What are the clinical features of relapsing polychondritis?

Clinical Features of Relapsing Polychondritis

Relapsing polychondritis is characterized by recurrent inflammation and widespread destruction of cartilage and connective tissues, with the most common clinical features being auricular chondritis (89%), nasal chondritis (63%), and arthralgias (81%). 1, 2

Key Clinical Manifestations

Cartilaginous Involvement

• Auricular chondritis: Swelling and erythema of the ears (88% of patients) 1, 2

  • Typically spares the earlobes (non-cartilaginous)
  • May lead to "cauliflower ear" deformity with repeated episodes

• Nasal chondritis: Affects 63% of patients 3

  • Can lead to saddle nose deformity
  • Nasal bridge tenderness and pain

• Respiratory tract involvement: Present in >50% of patients 1, 2

  • Affects cartilage in external nares, nasal septum, eustachian tubes, larynx, trachea, and bronchi
  • Warning sign: Persistent or chronic cough may be the first indication of respiratory involvement
  • Other respiratory symptoms: wheezing, stridor, dyspnea, hoarseness/aphonia
  • Tenderness over laryngotracheal cartilage
  • Associated with increased mortality

• Costochondritis: Affects 40% of patients 3

Non-Cartilaginous Manifestations

• Articular involvement: Present in 69-81% of patients 1, 3

  • Non-erosive, asymmetric arthritis
  • Can be migratory

• Ocular manifestations: Affect 56% of patients 3

  • Episcleritis, scleritis, uveitis, conjunctivitis
  • Can lead to vision impairment

• Audiovestibular symptoms: Present in 34% of patients 3

  • Hearing loss, tinnitus, vertigo

• Cardiovascular involvement: Affects 27% of patients 3

  • Aortic regurgitation, mitral regurgitation
  • Aortitis, aneurysms
  • Associated with worse prognosis

• Cutaneous manifestations: Present in 28% of patients 3

  • Various non-specific lesions

Disease Course and Patterns

• Relapsing course: Observed in 86% of patients 1
• Continuous symptoms: Present in 14% of patients 1
• Mean age at diagnosis: 51 years 1, 2
• Gender distribution: Equal male/female ratio 1, 4

Clinical Phenotypes

Three distinct clinical phenotypes have been identified 3:

1. Patients with associated myelodysplastic syndrome

   • Worse prognosis
   • More aggressive disease course

2. Patients with tracheobronchial involvement

   • Respiratory symptoms predominate
   • Higher risk of respiratory complications

3. Patients without the above features

   • Generally better prognosis

Diagnostic Considerations

• Diagnosis is often delayed due to non-specific symptoms in early stages 4
• Pulmonary function tests, including inspiratory and expiratory flow-volume curves, are essential for detecting subtle airway involvement 1
• CT scanning may reveal thickening and stenosis of the tracheobronchial wall, collapse and calcification of cartilage, and bronchiectasis 1

Prognostic Factors

Factors associated with increased mortality include:

• Male sex
• Cardiac abnormalities
• Concomitant myelodysplastic syndrome or other hematologic malignancy 3
• Respiratory tract involvement 5

Clinical Pitfalls to Avoid

• Misdiagnosis: Up to 73% of patients are initially misdiagnosed 5
• Delayed diagnosis: Due to non-specific symptoms at onset and rarity of the disease
• Overlooking respiratory involvement: May be the first manifestation in up to 25% of patients 1
• Failure to recognize life-threatening complications: Especially airway involvement, which requires prompt and aggressive treatment

Early recognition of these clinical features is crucial for timely diagnosis and management of relapsing polychondritis, particularly when respiratory involvement is present, as this significantly impacts mortality.